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O76090

- BEST1_HUMAN

UniProt

O76090 - BEST1_HUMAN

Protein

Bestrophin-1

Gene

BEST1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    Functioni

    Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.3 Publications

    GO - Molecular functioni

    1. chloride channel activity Source: MGI

    GO - Biological processi

    1. chloride transmembrane transport Source: GOC
    2. chloride transport Source: MGI
    3. detection of light stimulus involved in visual perception Source: Ensembl
    4. ion transmembrane transport Source: Reactome
    5. regulation of calcium ion transport Source: Ensembl
    6. transepithelial chloride transport Source: HGNC
    7. transmembrane transport Source: Reactome
    8. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Chloride channel, Ion channel

    Keywords - Biological processi

    Ion transport, Sensory transduction, Transport, Vision

    Keywords - Ligandi

    Calcium, Chloride

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Protein family/group databases

    TCDBi1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bestrophin-1
    Alternative name(s):
    TU15B
    Vitelliform macular dystrophy protein 2
    Gene namesi
    Name:BEST1
    Synonyms:VMD2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:12703. BEST1.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Basolateral cell membrane 1 Publication

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProtKB
    2. chloride channel complex Source: UniProtKB-KW
    3. cytosol Source: HGNC
    4. integral component of membrane Source: ProtInc
    5. membrane Source: ProtInc
    6. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Vitelliform macular dystrophy 2 (VMD2) [MIM:153700]: VMD2 is an autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.16 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31I → T in VMD2. 1 Publication
    VAR_058273
    Natural varianti6 – 61T → P in VMD2 and AVMD. 2 Publications
    Corresponds to variant rs28940275 [ dbSNP | Ensembl ].
    VAR_000830
    Natural varianti6 – 61T → R in VMD2.
    VAR_017366
    Natural varianti9 – 91V → A in VMD2.
    VAR_000831
    Natural varianti9 – 91V → M in VMD2.
    Corresponds to variant rs28940276 [ dbSNP | Ensembl ].
    VAR_000832
    Natural varianti10 – 101A → T in VMD2.
    VAR_000833
    Natural varianti10 – 101A → V in VMD2. 1 Publication
    VAR_010468
    Natural varianti11 – 111N → I in VMD2. 1 Publication
    VAR_017367
    Natural varianti13 – 131R → H in VMD2. 1 Publication
    VAR_010469
    Natural varianti16 – 161S → F in VMD2. 1 Publication
    VAR_010470
    Natural varianti17 – 171F → C in VMD2. 1 Publication
    VAR_010471
    Natural varianti21 – 211L → V in VMD2.
    VAR_000834
    Natural varianti24 – 241W → C in VMD2.
    VAR_000835
    Natural varianti25 – 251R → Q in VMD2.
    VAR_000836
    Natural varianti25 – 251R → W in VMD2.
    VAR_000837
    Natural varianti26 – 261G → R in VMD2. 1 Publication
    VAR_017368
    Natural varianti27 – 271S → R in VMD2.
    VAR_000838
    Natural varianti29 – 291Y → H in VMD2. 1 Publication
    VAR_017369
    Natural varianti30 – 301K → R in VMD2.
    VAR_017370
    Natural varianti41 – 411L → P in VMD2 and ARB. 2 Publications
    VAR_017371
    Natural varianti58 – 581Q → L in VMD2.
    VAR_000839
    Natural varianti73 – 731I → N in VMD2. 1 Publication
    VAR_010472
    Natural varianti80 – 801F → L in VMD2.
    VAR_017373
    Natural varianti82 – 821L → V in VMD2. 2 Publications
    VAR_010473
    Natural varianti85 – 851Y → H in VMD2; loss of cloride and bicarbonate anions conduction. 1 Publication
    Corresponds to variant rs28940274 [ dbSNP | Ensembl ].
    VAR_000841
    Natural varianti89 – 891V → A in VMD2. 1 Publication
    VAR_017374
    Natural varianti91 – 911T → I in VMD2.
    VAR_017375
    Natural varianti92 – 921R → C in VMD2; loss of cloride and bicarbonate anions conduction. 1 Publication
    VAR_010474
    Natural varianti92 – 921R → H in VMD2. 1 Publication
    VAR_010475
    Natural varianti92 – 921R → S in VMD2.
    VAR_000842
    Natural varianti93 – 931W → C in VMD2; loss of cloride and bicarbonate anions conduction. 2 Publications
    Corresponds to variant rs28940273 [ dbSNP | Ensembl ].
    VAR_000843
    Natural varianti96 – 961Q → H in VMD2. 1 Publication
    VAR_010476
    Natural varianti99 – 991N → K in VMD2.
    VAR_000844
    Natural varianti100 – 1001L → R in VMD2.
    VAR_000845
    Natural varianti101 – 1011P → T in VMD2.
    VAR_017376
    Natural varianti102 – 1021W → R in VMD2. 1 Publication
    VAR_017377
    Natural varianti104 – 1041D → E in VMD2.
    VAR_000846
    Natural varianti104 – 1041D → H in VMD2. 1 Publication
    VAR_017378
    Natural varianti113 – 1131F → L in VMD2. 1 Publication
    VAR_025732
    Natural varianti133 – 1331N → K in VMD2.
    VAR_017379
    Natural varianti135 – 1351G → S in VMD2. 1 Publication
    VAR_010478
    Natural varianti140 – 1401L → R in VMD2.
    VAR_017380
    Natural varianti141 – 1411R → H in VMD2 and ARB; reduced whole-cell conductance. 1 Publication
    Corresponds to variant rs121918284 [ dbSNP | Ensembl ].
    VAR_000847
    Natural varianti195 – 1951A → V in VMD2.
    Corresponds to variant rs200277476 [ dbSNP | Ensembl ].
    VAR_017381
    Natural varianti201 – 2011I → T in VMD2. 1 Publication
    VAR_025733
    Natural varianti207 – 2071L → I in VMD2. 1 Publication
    Corresponds to variant rs74653691 [ dbSNP | Ensembl ].
    VAR_025734
    Natural varianti209 – 2091S → N in VMD2.
    VAR_000848
    Natural varianti218 – 2181R → C in VMD2. 4 Publications
    VAR_000849
    Natural varianti218 – 2181R → H in VMD2. 1 Publication
    VAR_010481
    Natural varianti218 – 2181R → Q in VMD2.
    VAR_000850
    Natural varianti218 – 2181R → S in VMD2. 1 Publication
    VAR_000851
    Natural varianti221 – 2211C → W in VMD2. 1 Publication
    VAR_025735
    Natural varianti222 – 2221G → V in a family affected by Leber congenital amaurosis/VMD2. 1 Publication
    VAR_025736
    Natural varianti224 – 2241L → M in VMD2.
    VAR_000852
    Natural varianti224 – 2241L → P in VMD2. 1 Publication
    VAR_025737
    Natural varianti227 – 2271Y → N in VMD2. 2 Publications
    Corresponds to variant rs28941469 [ dbSNP | Ensembl ].
    VAR_000854
    Natural varianti231 – 2311S → R in VMD2.
    VAR_000855
    Natural varianti235 – 2351V → L in VMD2. 1 Publication
    VAR_010482
    Natural varianti235 – 2351V → M in VMD2.
    VAR_000856
    Natural varianti237 – 2371T → R in VMD2.
    VAR_000857
    Natural varianti241 – 2411T → N in VMD2. 1 Publication
    VAR_025738
    Natural varianti242 – 2421V → M in VMD2; late-onset of visual disturbance. 1 Publication
    VAR_058277
    Natural varianti243 – 2431A → T in VMD2. 1 Publication
    Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
    VAR_025739
    Natural varianti243 – 2431A → V in VMD2 and AVMD. 1 Publication
    Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
    VAR_000858
    Natural varianti276 – 2761F → L in VMD2. 1 Publication
    VAR_025741
    Natural varianti293 – 2931Q → K in VMD2. 1 Publication
    VAR_010483
    Natural varianti294 – 2941L → V in VMD2. 1 Publication
    VAR_025742
    Natural varianti295 – 2951I → T in VMD2. 1 Publication
    VAR_025743
    Natural varianti295 – 2951Missing in VMD2.
    VAR_000859
    Natural varianti296 – 2961N → H in VMD2. 1 Publication
    VAR_025744
    Natural varianti296 – 2961N → S in VMD2. 1 Publication
    VAR_010484
    Natural varianti297 – 2971P → A in VMD2.
    VAR_000860
    Natural varianti297 – 2971P → S in VMD2. 2 Publications
    Corresponds to variant rs1805143 [ dbSNP | Ensembl ].
    VAR_010485
    Natural varianti298 – 2981F → S in VMD2. 1 Publication
    VAR_025745
    Natural varianti299 – 2991G → A in VMD2. 1 Publication
    VAR_058313
    Natural varianti299 – 2991G → E in VMD2. 1 Publication
    Corresponds to variant rs28941468 [ dbSNP | Ensembl ].
    VAR_000861
    Natural varianti300 – 3001E → D in VMD2. 3 Publications
    Corresponds to variant rs1805144 [ dbSNP | Ensembl ].
    VAR_010486
    Natural varianti300 – 3001E → K in VMD2.
    VAR_000862
    Natural varianti301 – 3011D → E in VMD2. 1 Publication
    VAR_000863
    Natural varianti301 – 3011D → N in VMD2.
    VAR_000864
    Natural varianti302 – 3043Missing in VMD2.
    VAR_058278
    Natural varianti302 – 3021D → G in VMD2. 1 Publication
    VAR_025746
    Natural varianti302 – 3021D → H in VMD2. 1 Publication
    VAR_025747
    Natural varianti302 – 3021D → V in VMD2. 1 Publication
    VAR_025748
    Natural varianti303 – 3031D → E in VMD2. 1 Publication
    VAR_025749
    Natural varianti305 – 3051F → S in VMD2.
    VAR_000865
    Natural varianti306 – 3061E → D in VMD2. 1 Publication
    VAR_025750
    Natural varianti306 – 3061E → G in VMD2. 1 Publication
    VAR_025751
    Natural varianti307 – 3071T → A in VMD2. 1 Publication
    VAR_025752
    Natural varianti307 – 3071T → I in VMD2. 1 Publication
    VAR_010487
    Natural varianti308 – 3081N → S in VMD2. 1 Publication
    VAR_025753
    Natural varianti310 – 3101I → T in VMD2.
    VAR_000866
    Natural varianti311 – 3111V → G in VMD2.
    VAR_000867
    Retinitis pigmentosa 50 (RP50) [MIM:613194]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti140 – 1401L → V in RP50; causes protein mislocalization to the cytoplasm and reduction of channel activity. 1 Publication
    VAR_063169
    Natural varianti205 – 2051I → T in RP50; reduced channel activity. 1 Publication
    VAR_063170
    Natural varianti227 – 2271Y → C in RP50. 1 Publication
    VAR_000853
    Natural varianti228 – 2281D → N in RP50; causes protein mislocalization to the cytoplasm. 1 Publication
    VAR_063171
    Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: A rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61T → P in VMD2 and AVMD. 2 Publications
    Corresponds to variant rs28940275 [ dbSNP | Ensembl ].
    VAR_000830
    Natural varianti47 – 471R → H in AVMD.
    Corresponds to variant rs28940278 [ dbSNP | Ensembl ].
    VAR_017372
    Natural varianti146 – 1461A → K in AVMD; sporadic; requires 2 nucleotide substitutions. 1 Publication
    Corresponds to variant rs1800995 [ dbSNP | Ensembl ].
    VAR_010479
    Natural varianti243 – 2431A → V in VMD2 and AVMD. 1 Publication
    Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
    VAR_000858
    Natural varianti312 – 3121D → N in AVMD and ARB; causes protein mislocalization to the cytoplasm. 1 Publication
    VAR_000868
    Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411L → P in VMD2 and ARB. 2 Publications
    VAR_017371
    Natural varianti141 – 1411R → H in VMD2 and ARB; reduced whole-cell conductance. 1 Publication
    Corresponds to variant rs121918284 [ dbSNP | Ensembl ].
    VAR_000847
    Natural varianti152 – 1521P → A in ARB; reduced whole-cell conductance. 1 Publication
    VAR_043493
    Natural varianti312 – 3121D → N in AVMD and ARB; causes protein mislocalization to the cytoplasm. 1 Publication
    VAR_000868
    Natural varianti317 – 3171V → M in ARB. 1 Publication
    VAR_043494
    Natural varianti325 – 3251M → T in ARB. 1 Publication
    VAR_043495
    Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti86 – 861V → M in ADVIRC. 1 Publication
    VAR_058274
    Natural varianti236 – 2361Y → C in ADVIRC. 1 Publication
    VAR_058275
    Natural varianti239 – 2391V → M in ADVIRC. 1 Publication
    VAR_058276

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    MIMi153700. phenotype.
    193220. phenotype.
    608161. phenotype.
    611809. phenotype.
    613194. phenotype.
    Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
    3086. Autosomal dominant vitreoretinochoroidopathy.
    139455. Autosomal recessive bestrophinopathy.
    1243. Best vitelliform macular dystrophy.
    263347. MRCS syndrome.
    791. Retinitis pigmentosa.
    PharmGKBiPA162377454.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 585585Bestrophin-1PRO_0000143114Add
    BLAST

    Post-translational modificationi

    Phosphorylated by PP2A.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO76090.
    PRIDEiO76090.

    PTM databases

    PhosphoSiteiO76090.

    Expressioni

    Tissue specificityi

    Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

    Gene expression databases

    ArrayExpressiO76090.
    BgeeiO76090.
    CleanExiHS_BEST1.
    GenevestigatoriO76090.

    Interactioni

    Subunit structurei

    Tetramer or pentamers. May interact with PPP2CB and PPP2R1B By similarity.By similarity

    Protein-protein interaction databases

    BioGridi113279. 1 interaction.
    MINTiMINT-239943.
    STRINGi9606.ENSP00000301774.

    Structurei

    3D structure databases

    ProteinModelPortaliO76090.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 7024ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini92 – 17887CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini200 – 22829ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini250 – 27021ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini292 – 585294CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei229 – 24921Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei71 – 9121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei271 – 29121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the bestrophin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG315004.
    HOVERGENiHBG044928.
    InParanoidiO76090.
    KOiK13878.
    OMAiRSGYHSA.
    OrthoDBiEOG7N0C43.
    PhylomeDBiO76090.
    TreeFamiTF315803.

    Family and domain databases

    InterProiIPR000615. Bestrophin.
    IPR021134. Bestrophin/UPF0187.
    [Graphical view]
    PANTHERiPTHR10736. PTHR10736. 1 hit.
    PfamiPF01062. Bestrophin. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O76090-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY    50
    RLALTEEQQL MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL 100
    PWPDRLMSLV SGFVEGKDEQ GRLLRRTLIR YANLGNVLIL RSVSTAVYKR 150
    FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM FWVPWVWFAN LSMKAWLGGR 200
    IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV TVAVYSFFLT 250
    CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE 300
    DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA 350
    SAQFRRASFM GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD 400
    HHPPRANSRT KLLWPKRESL LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV 450
    DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP LEPSAPSKLH SVTGIDTKDK 500
    SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN LTDMPEIPEN 550
    HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS 585
    Length:585
    Mass (Da):67,684
    Last modified:November 1, 1998 - v1
    Checksum:iD0629AAF65BA1ACD
    GO
    Isoform 3 (identifier: O76090-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-60: Missing.
         581-585: DEAHS → SVLHLNQGHC...EDFLGPGEGR

    Show »
    Length:604
    Mass (Da):69,096
    Checksum:i4E105E710FC438BE
    GO
    Isoform 4 (identifier: O76090-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-60: Missing.
         290-316: Missing.

    Show »
    Length:498
    Mass (Da):57,349
    Checksum:iEB111B7121ADC566
    GO

    Sequence cautioni

    The sequence BAH12234.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAH13472.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31I → T in VMD2. 1 Publication
    VAR_058273
    Natural varianti6 – 61T → P in VMD2 and AVMD. 2 Publications
    Corresponds to variant rs28940275 [ dbSNP | Ensembl ].
    VAR_000830
    Natural varianti6 – 61T → R in VMD2.
    VAR_017366
    Natural varianti9 – 91V → A in VMD2.
    VAR_000831
    Natural varianti9 – 91V → M in VMD2.
    Corresponds to variant rs28940276 [ dbSNP | Ensembl ].
    VAR_000832
    Natural varianti10 – 101A → T in VMD2.
    VAR_000833
    Natural varianti10 – 101A → V in VMD2. 1 Publication
    VAR_010468
    Natural varianti11 – 111N → I in VMD2. 1 Publication
    VAR_017367
    Natural varianti13 – 131R → H in VMD2. 1 Publication
    VAR_010469
    Natural varianti16 – 161S → F in VMD2. 1 Publication
    VAR_010470
    Natural varianti17 – 171F → C in VMD2. 1 Publication
    VAR_010471
    Natural varianti21 – 211L → V in VMD2.
    VAR_000834
    Natural varianti24 – 241W → C in VMD2.
    VAR_000835
    Natural varianti25 – 251R → Q in VMD2.
    VAR_000836
    Natural varianti25 – 251R → W in VMD2.
    VAR_000837
    Natural varianti26 – 261G → R in VMD2. 1 Publication
    VAR_017368
    Natural varianti27 – 271S → R in VMD2.
    VAR_000838
    Natural varianti29 – 291Y → H in VMD2. 1 Publication
    VAR_017369
    Natural varianti30 – 301K → R in VMD2.
    VAR_017370
    Natural varianti41 – 411L → P in VMD2 and ARB. 2 Publications
    VAR_017371
    Natural varianti47 – 471R → H in AVMD.
    Corresponds to variant rs28940278 [ dbSNP | Ensembl ].
    VAR_017372
    Natural varianti58 – 581Q → L in VMD2.
    VAR_000839
    Natural varianti67 – 671L → V.
    VAR_000840
    Natural varianti73 – 731I → N in VMD2. 1 Publication
    VAR_010472
    Natural varianti80 – 801F → L in VMD2.
    VAR_017373
    Natural varianti82 – 821L → V in VMD2. 2 Publications
    VAR_010473
    Natural varianti85 – 851Y → H in VMD2; loss of cloride and bicarbonate anions conduction. 1 Publication
    Corresponds to variant rs28940274 [ dbSNP | Ensembl ].
    VAR_000841
    Natural varianti86 – 861V → M in ADVIRC. 1 Publication
    VAR_058274
    Natural varianti89 – 891V → A in VMD2. 1 Publication
    VAR_017374
    Natural varianti91 – 911T → I in VMD2.
    VAR_017375
    Natural varianti92 – 921R → C in VMD2; loss of cloride and bicarbonate anions conduction. 1 Publication
    VAR_010474
    Natural varianti92 – 921R → H in VMD2. 1 Publication
    VAR_010475
    Natural varianti92 – 921R → S in VMD2.
    VAR_000842
    Natural varianti93 – 931W → C in VMD2; loss of cloride and bicarbonate anions conduction. 2 Publications
    Corresponds to variant rs28940273 [ dbSNP | Ensembl ].
    VAR_000843
    Natural varianti96 – 961Q → H in VMD2. 1 Publication
    VAR_010476
    Natural varianti99 – 991N → K in VMD2.
    VAR_000844
    Natural varianti100 – 1001L → R in VMD2.
    VAR_000845
    Natural varianti101 – 1011P → T in VMD2.
    VAR_017376
    Natural varianti102 – 1021W → R in VMD2. 1 Publication
    VAR_017377
    Natural varianti104 – 1041D → E in VMD2.
    VAR_000846
    Natural varianti104 – 1041D → H in VMD2. 1 Publication
    VAR_017378
    Natural varianti105 – 1051R → C in age-related macular degeneration. 1 Publication
    VAR_025731
    Natural varianti113 – 1131F → L in VMD2. 1 Publication
    VAR_025732
    Natural varianti119 – 1191E → Q in a sporadic case of concentric annular macular dystrophy. 1 Publication
    Corresponds to variant rs1805142 [ dbSNP | Ensembl ].
    VAR_010477
    Natural varianti133 – 1331N → K in VMD2.
    VAR_017379
    Natural varianti135 – 1351G → S in VMD2. 1 Publication
    VAR_010478
    Natural varianti140 – 1401L → R in VMD2.
    VAR_017380
    Natural varianti140 – 1401L → V in RP50; causes protein mislocalization to the cytoplasm and reduction of channel activity. 1 Publication
    VAR_063169
    Natural varianti141 – 1411R → H in VMD2 and ARB; reduced whole-cell conductance. 1 Publication
    Corresponds to variant rs121918284 [ dbSNP | Ensembl ].
    VAR_000847
    Natural varianti146 – 1461A → K in AVMD; sporadic; requires 2 nucleotide substitutions. 1 Publication
    Corresponds to variant rs1800995 [ dbSNP | Ensembl ].
    VAR_010479
    Natural varianti152 – 1521P → A in ARB; reduced whole-cell conductance. 1 Publication
    VAR_043493
    Natural varianti195 – 1951A → V in VMD2.
    Corresponds to variant rs200277476 [ dbSNP | Ensembl ].
    VAR_017381
    Natural varianti201 – 2011I → T in VMD2. 1 Publication
    VAR_025733
    Natural varianti205 – 2051I → T in RP50; reduced channel activity. 1 Publication
    VAR_063170
    Natural varianti207 – 2071L → I in VMD2. 1 Publication
    Corresponds to variant rs74653691 [ dbSNP | Ensembl ].
    VAR_025734
    Natural varianti209 – 2091S → N in VMD2.
    VAR_000848
    Natural varianti216 – 2161T → I in a sporadic case of age-related macular degeneration. 1 Publication
    VAR_010480
    Natural varianti218 – 2181R → C in VMD2. 4 Publications
    VAR_000849
    Natural varianti218 – 2181R → H in VMD2. 1 Publication
    VAR_010481
    Natural varianti218 – 2181R → Q in VMD2.
    VAR_000850
    Natural varianti218 – 2181R → S in VMD2. 1 Publication
    VAR_000851
    Natural varianti221 – 2211C → W in VMD2. 1 Publication
    VAR_025735
    Natural varianti222 – 2221G → V in a family affected by Leber congenital amaurosis/VMD2. 1 Publication
    VAR_025736
    Natural varianti224 – 2241L → M in VMD2.
    VAR_000852
    Natural varianti224 – 2241L → P in VMD2. 1 Publication
    VAR_025737
    Natural varianti227 – 2271Y → C in RP50. 1 Publication
    VAR_000853
    Natural varianti227 – 2271Y → N in VMD2. 2 Publications
    Corresponds to variant rs28941469 [ dbSNP | Ensembl ].
    VAR_000854
    Natural varianti228 – 2281D → N in RP50; causes protein mislocalization to the cytoplasm. 1 Publication
    VAR_063171
    Natural varianti231 – 2311S → R in VMD2.
    VAR_000855
    Natural varianti235 – 2351V → L in VMD2. 1 Publication
    VAR_010482
    Natural varianti235 – 2351V → M in VMD2.
    VAR_000856
    Natural varianti236 – 2361Y → C in ADVIRC. 1 Publication
    VAR_058275
    Natural varianti237 – 2371T → R in VMD2.
    VAR_000857
    Natural varianti239 – 2391V → M in ADVIRC. 1 Publication
    VAR_058276
    Natural varianti241 – 2411T → N in VMD2. 1 Publication
    VAR_025738
    Natural varianti242 – 2421V → M in VMD2; late-onset of visual disturbance. 1 Publication
    VAR_058277
    Natural varianti243 – 2431A → T in VMD2. 1 Publication
    Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
    VAR_025739
    Natural varianti243 – 2431A → V in VMD2 and AVMD. 1 Publication
    Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
    VAR_000858
    Natural varianti275 – 2751V → I in age-related macular degeneration. 1 Publication
    VAR_025740
    Natural varianti276 – 2761F → L in VMD2. 1 Publication
    VAR_025741
    Natural varianti293 – 2931Q → K in VMD2. 1 Publication
    VAR_010483
    Natural varianti294 – 2941L → V in VMD2. 1 Publication
    VAR_025742
    Natural varianti295 – 2951I → T in VMD2. 1 Publication
    VAR_025743
    Natural varianti295 – 2951Missing in VMD2.
    VAR_000859
    Natural varianti296 – 2961N → H in VMD2. 1 Publication
    VAR_025744
    Natural varianti296 – 2961N → S in VMD2. 1 Publication
    VAR_010484
    Natural varianti297 – 2971P → A in VMD2.
    VAR_000860
    Natural varianti297 – 2971P → S in VMD2. 2 Publications
    Corresponds to variant rs1805143 [ dbSNP | Ensembl ].
    VAR_010485
    Natural varianti298 – 2981F → S in VMD2. 1 Publication
    VAR_025745
    Natural varianti299 – 2991G → A in VMD2. 1 Publication
    VAR_058313
    Natural varianti299 – 2991G → E in VMD2. 1 Publication
    Corresponds to variant rs28941468 [ dbSNP | Ensembl ].
    VAR_000861
    Natural varianti300 – 3001E → D in VMD2. 3 Publications
    Corresponds to variant rs1805144 [ dbSNP | Ensembl ].
    VAR_010486
    Natural varianti300 – 3001E → K in VMD2.
    VAR_000862
    Natural varianti301 – 3011D → E in VMD2. 1 Publication
    VAR_000863
    Natural varianti301 – 3011D → N in VMD2.
    VAR_000864
    Natural varianti302 – 3043Missing in VMD2.
    VAR_058278
    Natural varianti302 – 3021D → G in VMD2. 1 Publication
    VAR_025746
    Natural varianti302 – 3021D → H in VMD2. 1 Publication
    VAR_025747
    Natural varianti302 – 3021D → V in VMD2. 1 Publication
    VAR_025748
    Natural varianti303 – 3031D → E in VMD2. 1 Publication
    VAR_025749
    Natural varianti305 – 3051F → S in VMD2.
    VAR_000865
    Natural varianti306 – 3061E → D in VMD2. 1 Publication
    VAR_025750
    Natural varianti306 – 3061E → G in VMD2. 1 Publication
    VAR_025751
    Natural varianti307 – 3071T → A in VMD2. 1 Publication
    VAR_025752
    Natural varianti307 – 3071T → I in VMD2. 1 Publication
    VAR_010487
    Natural varianti308 – 3081N → S in VMD2. 1 Publication
    VAR_025753
    Natural varianti310 – 3101I → T in VMD2.
    VAR_000866
    Natural varianti311 – 3111V → G in VMD2.
    VAR_000867
    Natural varianti312 – 3121D → N in AVMD and ARB; causes protein mislocalization to the cytoplasm. 1 Publication
    VAR_000868
    Natural varianti317 – 3171V → M in ARB. 1 Publication
    VAR_043494
    Natural varianti325 – 3251M → T in ARB. 1 Publication
    VAR_043495
    Natural varianti357 – 3571A → V.1 Publication
    Corresponds to variant rs17854138 [ dbSNP | Ensembl ].
    VAR_043496
    Natural varianti525 – 5251E → A.1 Publication
    Corresponds to variant rs200582915 [ dbSNP | Ensembl ].
    VAR_010488
    Natural varianti557 – 5571E → K.1 Publication
    VAR_010489
    Natural varianti561 – 5611T → A.1 Publication
    VAR_010490
    Natural varianti567 – 5671L → F in a sporadic case of age-related macular degeneration; unknown pathological significance. 1 Publication
    Corresponds to variant rs148060787 [ dbSNP | Ensembl ].
    VAR_010491
    Natural varianti578 – 5781E → V.
    Corresponds to variant rs1800010 [ dbSNP | Ensembl ].
    VAR_009278

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6060Missing in isoform 3 and isoform 4. 1 PublicationVSP_008973Add
    BLAST
    Alternative sequencei290 – 31627Missing in isoform 4. 1 PublicationVSP_008975Add
    BLAST
    Alternative sequencei581 – 5855DEAHS → SVLHLNQGHCIALCPTPASL ALSLPFLHNFLGFHHCQSTL DLRPALAWGIYLATFTGILG KCSGPFLTSPWYHPEDFLGP GEGR in isoform 3. 1 PublicationVSP_008974

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF073500
    , AF073491, AF073492, AF073493, AF073494, AF073495, AF073496, AF073497, AF073498, AF073499 Genomic DNA. Translation: AAC64926.1.
    AF057169 mRNA. Translation: AAC64343.1.
    AF057170 mRNA. Translation: AAC64344.1.
    AF073501 mRNA. Translation: AAC33766.1.
    AY515704 mRNA. Translation: AAR99654.1.
    CH471076 Genomic DNA. Translation: EAW73982.1.
    CH471076 Genomic DNA. Translation: EAW73985.1.
    BC015220 mRNA. Translation: AAH15220.1.
    BC041664 mRNA. Translation: AAH41664.1.
    AK289681 mRNA. Translation: BAF82370.1.
    AK295998 mRNA. Translation: BAH12234.1. Different initiation.
    AK301392 mRNA. Translation: BAH13472.1. Different initiation.
    CCDSiCCDS31580.1. [O76090-1]
    CCDS44623.1. [O76090-3]
    RefSeqiNP_001132915.1. NM_001139443.1. [O76090-3]
    NP_004174.1. NM_004183.3. [O76090-1]
    XP_005274270.1. XM_005274213.1.
    XP_005274272.1. XM_005274215.1.
    UniGeneiHs.524910.
    Hs.712676.

    Genome annotation databases

    EnsembliENST00000378043; ENSP00000367282; ENSG00000167995. [O76090-1]
    ENST00000449131; ENSP00000399709; ENSG00000167995. [O76090-3]
    ENST00000524926; ENSP00000432681; ENSG00000167995.
    GeneIDi7439.
    KEGGihsa:7439.
    UCSCiuc001nsr.2. human. [O76090-3]
    uc001nss.3. human. [O76090-1]
    uc001nst.3. human. [O76090-4]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    VMD2 mutation database
    Mutations of the VMD2 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF073500
    , AF073491 , AF073492 , AF073493 , AF073494 , AF073495 , AF073496 , AF073497 , AF073498 , AF073499 Genomic DNA. Translation: AAC64926.1 .
    AF057169 mRNA. Translation: AAC64343.1 .
    AF057170 mRNA. Translation: AAC64344.1 .
    AF073501 mRNA. Translation: AAC33766.1 .
    AY515704 mRNA. Translation: AAR99654.1 .
    CH471076 Genomic DNA. Translation: EAW73982.1 .
    CH471076 Genomic DNA. Translation: EAW73985.1 .
    BC015220 mRNA. Translation: AAH15220.1 .
    BC041664 mRNA. Translation: AAH41664.1 .
    AK289681 mRNA. Translation: BAF82370.1 .
    AK295998 mRNA. Translation: BAH12234.1 . Different initiation.
    AK301392 mRNA. Translation: BAH13472.1 . Different initiation.
    CCDSi CCDS31580.1. [O76090-1 ]
    CCDS44623.1. [O76090-3 ]
    RefSeqi NP_001132915.1. NM_001139443.1. [O76090-3 ]
    NP_004174.1. NM_004183.3. [O76090-1 ]
    XP_005274270.1. XM_005274213.1.
    XP_005274272.1. XM_005274215.1.
    UniGenei Hs.524910.
    Hs.712676.

    3D structure databases

    ProteinModelPortali O76090.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113279. 1 interaction.
    MINTi MINT-239943.
    STRINGi 9606.ENSP00000301774.

    Protein family/group databases

    TCDBi 1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

    PTM databases

    PhosphoSitei O76090.

    Proteomic databases

    PaxDbi O76090.
    PRIDEi O76090.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378043 ; ENSP00000367282 ; ENSG00000167995 . [O76090-1 ]
    ENST00000449131 ; ENSP00000399709 ; ENSG00000167995 . [O76090-3 ]
    ENST00000524926 ; ENSP00000432681 ; ENSG00000167995 .
    GeneIDi 7439.
    KEGGi hsa:7439.
    UCSCi uc001nsr.2. human. [O76090-3 ]
    uc001nss.3. human. [O76090-1 ]
    uc001nst.3. human. [O76090-4 ]

    Organism-specific databases

    CTDi 7439.
    GeneCardsi GC11P061717.
    GeneReviewsi BEST1.
    H-InvDB HIX0036211.
    HGNCi HGNC:12703. BEST1.
    MIMi 153700. phenotype.
    193220. phenotype.
    607854. gene.
    608161. phenotype.
    611809. phenotype.
    613194. phenotype.
    neXtProti NX_O76090.
    Orphaneti 99000. Adult-onset foveomacular vitelliform dystrophy.
    3086. Autosomal dominant vitreoretinochoroidopathy.
    139455. Autosomal recessive bestrophinopathy.
    1243. Best vitelliform macular dystrophy.
    263347. MRCS syndrome.
    791. Retinitis pigmentosa.
    PharmGKBi PA162377454.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315004.
    HOVERGENi HBG044928.
    InParanoidi O76090.
    KOi K13878.
    OMAi RSGYHSA.
    OrthoDBi EOG7N0C43.
    PhylomeDBi O76090.
    TreeFami TF315803.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    ChiTaRSi BEST1. human.
    GeneWikii Bestrophin_1.
    GenomeRNAii 7439.
    NextBioi 29132.
    PROi O76090.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O76090.
    Bgeei O76090.
    CleanExi HS_BEST1.
    Genevestigatori O76090.

    Family and domain databases

    InterProi IPR000615. Bestrophin.
    IPR021134. Bestrophin/UPF0187.
    [Graphical view ]
    PANTHERi PTHR10736. PTHR10736. 1 hit.
    Pfami PF01062. Bestrophin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)."
      Marquardt A., Stoehr H., Passmore L.A., Kraemer F., Rivera A., Weber B.H.F.
      Hum. Mol. Genet. 7:1517-1525(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VMD2.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VMD2 PRO-6; HIS-85; CYS-93; ASN-227 AND GLU-299.
    3. "Structure-function analysis of the bestrophin family of anion channels."
      Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W., Nathans J.
      J. Biol. Chem. 278:41114-41125(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TOPOLOGY.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT VAL-357.
      Tissue: Brain.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 52-585 (ISOFORM 1).
      Tissue: Amygdala, Subthalamic nucleus and Synovium.
    7. "The vitelliform macular dystrophy protein defines a new family of chloride channels."
      Sun H., Tsunenari T., Yau K.-W., Nathans J.
      Proc. Natl. Acad. Sci. U.S.A. 99:4008-4013(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "Bestrophin Cl- channels are highly permeable to HCO3-."
      Qu Z., Hartzell H.C.
      Am. J. Physiol. 294:C1371-C1377(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CHARACTERIZATION OF VARIANTS VMD2 HIS-85; CYS-92 AND CYS-93.
    9. Cited for: SUBCELLULAR LOCATION, VARIANTS RP50 VAL-140; THR-205; CYS-227 AND ASN-228, CHARACTERIZATION OF VARIANTS RP50 VAL-140; THR-205 AND ASN-228, CHARACTERIZATION OF VARIANT ARB ASN-312.
    10. Cited for: VARIANTS VMD2 HIS-13; CYS-93; CYS-218; ASP-300; GLU-301 AND ILE-307.
    11. Cited for: VARIANTS VMD2 VAL-10; VAL-82; CYS-92; HIS-96; SER-135; CYS-218; SER-218 AND LYS-293.
    12. "Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies."
      Allikmets R., Seddon J.M., Bernstein P.S., Hutchinson A., Atkinson A., Sharma S., Gerrard B., Li W., Metzker M.L., Wadelius C., Caskey C.T., Dean M., Petrukhin K.
      Hum. Genet. 104:449-453(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VMD2 SER-297 AND ASP-300, VARIANT AVMD LYS-146, VARIANTS GLN-119; ILE-216; ALA-525; LYS-557; ALA-561 AND PHE-567.
    13. "A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case."
      Palomba G., Rozzo C., Angius A., Pierrottet C.O., Orzalesi N., Pirastu M.
      Am. J. Ophthalmol. 129:260-262(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VMD2 TRP-221.
    14. Cited for: VARIANT VAL-222.
    15. "Allelic variation in the VMD2 gene in best disease and age-related macular degeneration."
      Lotery A.J., Munier F.L., Fishman G.A., Weleber R.G., Jacobson S.G., Affatigato L.M., Nichols B.E., Schorderet D.F., Sheffield V.C., Stone E.M.
      Invest. Ophthalmol. Vis. Sci. 41:1291-1296(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS AGE-RELATED MACULAR DEGENERATION CYS-105 AND ILE-275, VARIANTS VMD2 THR-201; ILE-207; PRO-224; THR-243; LEU-276; HIS-296; GLY-302; VAL-302; ASP-306; GLY-306 AND ALA-307.
    16. Cited for: VARIANTS VMD2 PHE-16; CYS-17; ASN-73; HIS-92; CYS-218; HIS-218; LEU-235 AND SER-296.
    17. "Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene."
      Eksandh L., Bakall B., Bauer B., Wadelius C., Andreasson S.
      Ophthalmic Genet. 22:107-115(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VMD2 ALA-89.
    18. "Identification of a novel VMD2 mutation in Japanese patients with Best disease."
      Yanagi Y., Sekine H., Mori M.
      Ophthalmic Genet. 23:129-133(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VMD2 THR-295.
    19. "Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy."
      Marchant D., Gogat K., Dureau P., Sainton K., Sternberg C., Gadin S., Dollfus H., Brasseur G., Hache J.C., Dumur V., Puech V., Munier F.L., Schorderet D.F., Marsac C., Menasche M., Dufier J.-L., Abitbol M.
      Ophthalmic Genet. 23:167-174(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VMD2 HIS-302; GLU-303 AND SER-308.
    20. "Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)."
      Kraemer F., Mohr N., Kellner U., Rudolph G., Weber B.H.F.
      Hum. Mutat. 22:418-418(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VMD2 ILE-11; ARG-26; HIS-29; PRO-41; ARG-102; HIS-104; ASN-241; VAL-294 AND SER-298.
    21. Cited for: VARIANTS VMD2 SER-297 AND ASP-300.
    22. "Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2)."
      Li Y., Wang G.L., Dong B.
      Hum. Genet. 114:608-608(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VMD2 LEU-113.
    23. Cited for: VARIANTS ADVIRC MET-86; CYS-236 AND MET-239.
    24. Cited for: VARIANTS ARB PRO-41; HIS-141; ALA-152; ASN-312; MET-317 AND THR-325, CHARACTERIZATION OF VARIANTS ARB HIS-141 AND ALA-152.
    25. Cited for: VARIANTS VMD2 CYS-218 AND MET-242.
    26. "Clinical and molecular genetic analysis of Best vitelliform macular dystrophy."
      Boon C.J.F., Theelen T., Hoefsloot E.H., van Schooneveld M.J., Keunen J.E.E., Cremers F.P.M., Klevering B.J., Hoyng C.B.
      Retina 29:835-847(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VMD2 THR-3; PRO-6; VAL-82; ASN-227; VAL-243; ALA-299 AND 302-ASP--ASP-304 DEL.

    Entry informationi

    Entry nameiBEST1_HUMAN
    AccessioniPrimary (citable) accession number: O76090
    Secondary accession number(s): A8K0W6
    , B7Z3J8, B7Z736, O75904, Q53YQ9, Q8IUR9, Q8IZ80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 144 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3